RING1 ring finger protein 1 [Homo sapiens (human)] - Gene

Summary

Official Symbol: RING1provided by HGNC
Official Full Name: ring finger protein 1provided by HGNC
Primary source: HGNC:HGNC:10018
See related: Ensembl:ENSG00000204227 MIM:602045; AllianceGenome:HGNC:10018
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: RNF1; RING1A
Summary: This gene belongs to the RING finger family, members of which encode proteins characterized by a RING domain, a zinc-binding motif related to the zinc finger domain. The gene product can bind DNA and can act as a transcriptional repressor. It is associated with the multimeric polycomb group protein complex. The gene product interacts with the polycomb group proteins BMI1, EDR1, and CBX4, and colocalizes with these proteins in large nuclear domains. It interacts with the CBX4 protein via its glycine-rich C-terminal domain. The gene maps to the HLA class II region, where it is contiguous with the RING finger genes FABGL and HKE4. [provided by RefSeq, Jul 2008]
Expression: Ubiquitous expression in endometrium (RPKM 22.9), ovary (RPKM 22.0) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 6p21.32

Exon count:: 7

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	6	NC_000006.12 (33208500..33212716)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	6	NC_060930.1 (33029853..33034069)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	6	NC_000006.11 (33176277..33180493)

Chromosome 6 - NC_000006.12 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

RING1 missense variants reveal sensitivity of DNA damage repair to H2A monoubiquitination dosage during neurogenesis.
Title: RING1 missense variants reveal sensitivity of DNA damage repair to H2A monoubiquitination dosage during neurogenesis.
RING induces cell cycle arrest and apoptosis in human breast cancer cells by regulating the HSF1/MT2A axis.
Title: RING induces cell cycle arrest and apoptosis in human breast cancer cells by regulating the HSF1/MT2A axis.
RING1 Inhibition Has a Cell-Specific Antitumoral Role by Promoting Autophagy in Endometrial Cancer Cells.
Title: RING1 Inhibition Has a Cell-Specific Antitumoral Role by Promoting Autophagy in Endometrial Cancer Cells.
Essential role of MESP1-RING1A complex in cardiac differentiation.
Title: Essential role of MESP1-RING1A complex in cardiac differentiation.
XIST served as an endogenous competitive RNA modulating miR-744, leading to the miR-744/RING1 signaling pathway inhibition and Wnt/beta-catenin signaling pathway activation in non-small cell lung cancer.
Title: Down-regulation of lncRNA XIST inhibits cell proliferation via regulating miR-744/RING1 axis in non-small cell lung cancer.
LncRNA C5orf66-AS1, as a competitive endogenous RNA, regulated the effect of RING1 on the proliferation, apoptosis and cell cycle of cervical cancer cells through adsorbing miR-637.
Title: Long non-coding RNA C5orf66-AS1 promotes cell proliferation in cervical cancer by targeting miR-637/RING1 axis.
High RING1 expression is associated with hepatocellular carcinoma.
Title: The E3 Ligase RING1 Targets p53 for Degradation and Promotes Cancer Cell Proliferation and Survival.
Mutation of RING1 is associated with neurodevelopmental abnormalities
Title: De novo mutation in RING1 with epigenetic effects on neurodevelopment.
study identified novel interactions between CD147 and RING1, recovered CD147 nuclear envelope distribution in melanoma cells, and suggested a new mechanism underlying how cytoplasmic CD147 promotes melanoma development
Title: Nuclear envelope-distributed CD147 interacts with and inhibits the transcriptional function of RING1 and promotes melanoma cell motility.
The release of epigenetic repression by nitrosylation of RING1A is critical for effective cell transdifferentiation.
Title: Transdifferentiation Requires iNOS Activation: Role of RING1A S-Nitrosylation.

Submit: New GeneRIF Correction See all GeneRIFs (21)

Phenotypes

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Find tests for this gene in the NIH Genetic Testing Registry (GTR)

Review eQTL and phenotype association data in this region using PheGenI

EBI GWAS Catalog

Description
Association of granulomatosis with polyangiitis (Wegener's) with HLA-DPB1*04 and SEMA6A gene variants: evidence from genome-wide analysis. EBI GWAS Catalog EBI GWAS CatalogPubMed

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SHGC-31083 (e-PCR)
- UniSTS:23851

RH46773 (e-PCR)
- UniSTS:52544

STS-R94868 (e-PCR)
- UniSTS:1387

STS-Z14000 (e-PCR)
- UniSTS:9839

RING1_2682 (e-PCR)
- UniSTS:280961

SGC35586 (e-PCR)
- UniSTS:74143

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables chromatin binding	IBA Inferred from Biological aspect of Ancestor more info
enables metal ion binding	IEA Inferred from Electronic Annotation more info
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed
enables ubiquitin protein ligase activity	IBA Inferred from Biological aspect of Ancestor more info
enables ubiquitin-protein transferase activator activity	IEA Inferred from Electronic Annotation more info

Process	Evidence Code	Pubs
involved_in anterior/posterior pattern specification	IEA Inferred from Electronic Annotation more info
involved_in camera-type eye morphogenesis	IEA Inferred from Electronic Annotation more info
involved_in chromatin remodeling	IDA Inferred from Direct Assay more info	PubMed
involved_in negative regulation of DNA-templated transcription	IBA Inferred from Biological aspect of Ancestor more info
involved_in negative regulation of DNA-templated transcription	IDA Inferred from Direct Assay more info	PubMed
involved_in protein ubiquitination	IEA Inferred from Electronic Annotation more info

Component	Evidence Code	Pubs
part_of PRC1 complex	IDA Inferred from Direct Assay more info	PubMed
part_of PcG protein complex	IBA Inferred from Biological aspect of Ancestor more info
part_of PcG protein complex	IDA Inferred from Direct Assay more info	PubMed
located_in cytosol	IDA Inferred from Direct Assay more info
located_in nuclear speck	IEA Inferred from Electronic Annotation more info
located_in nucleoplasm	IDA Inferred from Direct Assay more info
located_in nucleoplasm	TAS Traceable Author Statement more info
located_in nucleus	IDA Inferred from Direct Assay more info	PubMed
located_in sex chromatin	IEA Inferred from Electronic Annotation more info
part_of ubiquitin ligase complex	IBA Inferred from Biological aspect of Ancestor more info

General protein information

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Preferred Names: E3 ubiquitin-protein ligase RING1

Names: RING-type E3 ubiquitin transferase RING1; polycomb complex protein RING1; really interesting new gene 1 protein

NP_002922.2

EC 2.3.2.27

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_002931.4 → NP_002922.2 E3 ubiquitin-protein ligase RING1

See identical proteins and their annotated locations for NP_002922.2

Status: REVIEWED

Source sequence(s)

AL645940, BC051866, BI259576

Consensus CDS

CCDS34424.1

UniProtKB/Swiss-Prot

A8JZZ0, Q06587, Q5JP96, Q5SQW2, Q86V19

UniProtKB/TrEMBL

A0A1U9X8F1, A0A1U9X8F2

Related

ENSP00000363787.4, ENST00000374656.5

Conserved Domains (2) summary

pfam16207
Location:282 → 400

RAWUL; RAWUL domain RING finger- and WD40-associated ubiquitin-like

cd16739
Location:47 → 90

RING-HC_RING1; RING finger, HC subclass, found in really interesting new gene 1 protein (RING1) and similar proteins